Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002345 | HP:0002345 | Action tremor | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ABCB7 CL E G H | 22 | 48 | OMIM:301310 | Anemia, sideroblastic, and spinocerebellar ataxia | | | | 35 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | | | | 50 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ACBD5 CL E G H | 91452 | 23338 | OMIM:618863 | RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD | | | | 1 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:101109 | Spinocerebellar ataxia type 28 | | | | 86 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | | | | 89 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 114 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | | | | 64 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ANO10 CL E G H | 55129 | 25519 | OMIM:613728 | Spinocerebellar ataxia, autosomal recessive 10 | | | | 64 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | | | | 17 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 253 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATCAY CL E G H | 85300 | 779 | ORPHA:94122 | Cerebellar ataxia, Cayman type | | | | 72 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATCAY CL E G H | 85300 | 779 | OMIM:601238 | Cerebellar ataxia, Cayman type | | | | 72 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATN1 CL E G H | 1822 | 3033 | ORPHA:101 | Dentatorubral pallidoluysian atrophy | HP:0040282 - Frequent | | | 16 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | | | | 100 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | . | | | 19 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | HP:0040282 - Frequent | | | 19 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | | | | 19 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | | | | 9 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | | | | 11 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | | | | 20 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | | | | 105 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | | | | 449 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | 34 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | | | | 35 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | | | | 54 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | | | | 54 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:615651 | Leukoencephalopathy with ataxia | | | | 44 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:616411 | Dystonia 27 | . | | | 702 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:464440 | Primary dystonia, DYT27 type | HP:0040282 - Frequent | | | 702 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | | | | 54 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | | | | 54 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CSTB CL E G H | 1476 | 2482 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | | | | 51 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | | | | 17 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | | | | 9 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | DNAJC19 CL E G H | 131118 | 30528 | ORPHA:66634 | Dilated cardiomyopathy with ataxia | HP:0040284 - Very rare | | | 25 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | DRD3 CL E G H | 1814 | 3024 | OMIM:190300 | Tremor, hereditary essential, 1 | . | | | 21 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | | | | 62 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | | | | 36 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 36 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | | | | 111 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | | | | 30 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 105 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | FUS CL E G H | 2521 | 4010 | OMIM:614782 | TREMOR, HEREDITARY ESSENTIAL, 4; ETM4 | | | | 105 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 139 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040282 - Frequent | | | 351 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 86 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | | | 86 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | | | | 107 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | | | | 37 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | | | | 39 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | | | | 32 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:233400 | Perrault syndrome 1 | | | | 98 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | IFRD1 CL E G H | 3475 | 5456 | ORPHA:98771 | Spinocerebellar ataxia type 18 | | | | 1 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 1 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ITM2B CL E G H | 9445 | 6174 | OMIM:117300 | Dementia, familial danish | | | | 3 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:206700 | Gillespie syndrome | | | | 177 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:98769 | Spinocerebellar ataxia type 15/16 | HP:0040282 - Frequent | | | 177 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | | | | 177 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | JPH3 CL E G H | 57338 | 14203 | OMIM:606438 | Huntington disease-like 2 | . | | | 2 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | | | | 17 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | | | | 35 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040282 - Frequent | | | 121 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | | | | 38 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | | | | 38 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | | | | 35 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | LEMD2 CL E G H | 221496 | 21244 | OMIM:619322 | MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS | | | | 1 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | LMAN2L CL E G H | 81562 | 19263 | OMIM:617863 | | | | | 1 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | MAG CL E G H | 4099 | 6783 | ORPHA:459056 | Autosomal recessive spastic paraplegia type 75 | | | | 4 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | MAOA CL E G H | 4128 | 6833 | OMIM:300615 | Brunner syndrome | | | | 22 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 134 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 134 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:618524 | MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM | | | | 66 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | | | | 82 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | | | | 65 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NGLY1 CL E G H | 55768 | 17646 | OMIM:615273 | Congenital disorder of deglycosylation | | | | 32 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:100988 | Autosomal dominant spastic paraplegia type 6 | | | | 117 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | | | | 51 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | | | | 2 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | | | | 9 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:618866 | TREMOR, HEREDITARY ESSENTIAL, 6; ETM6 | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | | | | 27 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | | | | 163 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | | | | 55 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 225 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | | | | 162 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 11 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | | | | 133 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | | | | 60 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280210 | Pelizaeus-Merzbacher disease, connatal form | | | | 60 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | | | | 79 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 79 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | POU4F1 CL E G H | 5457 | 9218 | OMIM:619352 | ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | | | | 2 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PPP2R2B CL E G H | 5521 | 9305 | OMIM:604326 | Spinocerebellar ataxia 12 | . | | | 5 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | HP:0040282 - Frequent | | | 5 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PRICKLE1 CL E G H | 144165 | 17019 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | | | | 133 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PRKRA CL E G H | 8575 | 9438 | ORPHA:210571 | Dystonia 16 | | | | 37 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | | | | 37 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 81 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | RARS1 CL E G H | 5917 | 9870 | OMIM:616140 | Leukodystrophy, hypomyelinating, 9 | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | REEP2 CL E G H | 51308 | 17975 | ORPHA:401849 | Autosomal spastic paraplegia type 72 | | | | 3 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | RFC1 CL E G H | 5981 | 9969 | ORPHA:504476 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | . | | | 77 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | | | | 77 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 1053 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 126 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 427 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 318 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | | | | 4 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 162 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 6 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 42 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | | | | 12 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SLC9A1 CL E G H | 6548 | 11071 | OMIM:616291 | Lichtenstein-Knorr syndrome | . | | | 2 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 65 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 287 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | | | | 126 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | | | | 126 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | | | | 126 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 54 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TECR CL E G H | 9524 | 4551 | OMIM:614020 | Mental retardation, autosomal recessive 14 | | | | 17 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TENM4 CL E G H | 26011 | 29945 | OMIM:616736 | Tremor, hereditary essential, 5 | | | | 5 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | | | | 58 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | | | | 58 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 80 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 103 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TMEM63A CL E G H | 9725 | 29118 | OMIM:618688 | LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19 | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | | | | 63 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | | | | 203 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | | | | 203 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | | | | 2 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | | | | 66 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | UFC1 CL E G H | 51506 | 26941 | OMIM:618076 | Neurodevelopmental disorder with spasticity and poor growth | | | | | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | UROC1 CL E G H | 131669 | 26444 | OMIM:276880 | Urocanase deficiency | | | | 8 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | UROC1 CL E G H | 131669 | 26444 | ORPHA:210128 | Urocanic aciduria | HP:0040281 - Very frequent | | | 8 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | VAPB CL E G H | 9217 | 12649 | OMIM:608627 | Amyotrophic lateral sclerosis 8 | | | | 116 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | | | | 111 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | VWA3B CL E G H | 200403 | 28385 | OMIM:616948 | Spinocerebellar ataxia, autosomal recessive 22 | | | | 1 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | | | | 109 | | |
HP:0002345 | HP:0002345 | Action tremor | 0 | YWHAG CL E G H | 7532 | 12852 | OMIM:617665 | Epileptic encephalopathy, early infantile, 56 | | | | | | |
HP:0002345 | HP:0030187 | Titubation | 1 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ABCB7 CL E G H | 22 | 48 | OMIM:301310 | Anemia, sideroblastic, and spinocerebellar ataxia | | | | 35 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | | | | 50 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | ACBD5 CL E G H | 91452 | 23338 | OMIM:618863 | RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD | | | | 1 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:101109 | Spinocerebellar ataxia type 28 | HP:0040283 - Occasional | | | 86 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | | | | 54 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447757 | Autosomal dominant spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040282 - Frequent | | | 89 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 114 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | | | | 64 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ANO10 CL E G H | 55129 | 25519 | OMIM:613728 | Spinocerebellar ataxia, autosomal recessive 10 | | | | 64 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | | | | 17 | | |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | HP:0040282 - Frequent | | | 17 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 253 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 253 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ATCAY CL E G H | 85300 | 779 | ORPHA:94122 | Cerebellar ataxia, Cayman type | | | | 72 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ATCAY CL E G H | 85300 | 779 | OMIM:601238 | Cerebellar ataxia, Cayman type | | | | 72 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040284 - Very rare | | | 100 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | | | | 19 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | | | | 19 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040283 - Occasional | | | 19 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | HP:0040282 - Frequent | | | 9 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | . | | | 11 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | | | | 20 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:100998 | Autosomal dominant spastic paraplegia type 17 | HP:0040283 - Occasional | | | 105 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | BSCL2 CL E G H | 26580 | 15832 | OMIM:270685 | Spastic paraplegia 17 | | | | 105 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | | | | 449 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | | | | 32 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | 34 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | | | | 35 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | | | | 54 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | | | | 54 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:616411 | Dystonia 27 | . | | | 702 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:464440 | Primary dystonia, DYT27 type | | | | 702 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:227510 | Multiple system atrophy, cerebellar type | HP:0040282 - Frequent | | | 54 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | COQ2 CL E G H | 27235 | 25223 | ORPHA:98933 | Multiple system atrophy, parkinsonian type | HP:0040283 - Occasional | | | 54 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | CSTB CL E G H | 1476 | 2482 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | | | | 51 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | | | | 17 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | | | | 9 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | CYP7B1 CL E G H | 9420 | 2652 | OMIM:270800 | Spastic paraplegia 5A, autosomal recessive | | | | 57 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | DRD3 CL E G H | 1814 | 3024 | OMIM:190300 | Tremor, hereditary essential, 1 | . | | | 21 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | | | | 62 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | | | | 36 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 36 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | | | | 111 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | . | | | 30 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | | | | 30 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 105 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | FUS CL E G H | 2521 | 4010 | OMIM:614782 | TREMOR, HEREDITARY ESSENTIAL, 4; ETM4 | | | | 105 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | GALT CL E G H | 2592 | 4135 | ORPHA:79239 | Classic galactosemia | HP:0040282 - Frequent | | | 351 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | GCH1 CL E G H | 2643 | 4193 | OMIM:128230 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | . | | | 86 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | | | | 107 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | | | | 37 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | | | | 37 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | | | | 39 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | | | | 32 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:233400 | Perrault syndrome 1 | | | | 98 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | | | | | | |
HP:0002345 | HP:0030187 | Titubation | 1 | IFRD1 CL E G H | 3475 | 5456 | ORPHA:98771 | Spinocerebellar ataxia type 18 | HP:0040283 - Occasional | | | 1 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ITM2B CL E G H | 9445 | 6174 | OMIM:117300 | Dementia, familial danish | | | | 3 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:206700 | Gillespie syndrome | . | | | 177 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:98769 | Spinocerebellar ataxia type 15/16 | | | | 177 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | | | | 177 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040282 - Frequent | | | 17 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | . | | | 35 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | | | | 121 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0002345 | HP:0030187 | Titubation | 1 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040282 - Frequent | | | 38 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | | | | 38 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | | | | 38 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | | | | 35 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | LEMD2 CL E G H | 221496 | 21244 | OMIM:619322 | MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS | | | | 1 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | LMAN2L CL E G H | 81562 | 19263 | OMIM:617863 | | | | | 1 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | | | | 44 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | | | | 44 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | | | | 44 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | MAG CL E G H | 4099 | 6783 | ORPHA:459056 | Autosomal recessive spastic paraplegia type 75 | HP:0040283 - Occasional | | | 4 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | MAOA CL E G H | 4128 | 6833 | OMIM:300615 | Brunner syndrome | . | | | 22 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040283 - Occasional | | | 203 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | MPZ CL E G H | 4359 | 7225 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 134 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:618524 | MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM | | | | 66 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | NDRG1 CL E G H | 10397 | 7679 | ORPHA:99950 | Charcot-Marie-Tooth disease type 4D | HP:0040283 - Occasional | | | 82 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040283 - Occasional | | | 65 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:100988 | Autosomal dominant spastic paraplegia type 6 | HP:0040283 - Occasional | | | 117 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | | | | 51 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | | | | 2 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | | | | 10 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | | | | 9 | | |
HP:0002345 | HP:0012477 | Vocal tremor | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:618866 | TREMOR, HEREDITARY ESSENTIAL, 6; ETM6 | | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:618866 | TREMOR, HEREDITARY ESSENTIAL, 6; ETM6 | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:618866 | TREMOR, HEREDITARY ESSENTIAL, 6; ETM6 | | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | NR4A2 CL E G H | 4929 | 7981 | OMIM:619911 | | | | | 27 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040282 - Frequent | | | 163 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | | | | 55 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | | | | 75 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | | | | 162 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | | | | 133 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280219 | Pelizaeus-Merzbacher disease, classic form | HP:0040282 - Frequent | | | 60 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | PLP1 CL E G H | 5354 | 9086 | ORPHA:280210 | Pelizaeus-Merzbacher disease, connatal form | HP:0040282 - Frequent | | | 60 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | PMP22 CL E G H | 5376 | 9118 | ORPHA:3115 | Roussy-Lévy syndrome | HP:0040282 - Frequent | | | 79 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | | | | 79 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | POU4F1 CL E G H | 5457 | 9218 | OMIM:619352 | ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | | | | 2 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | HP:0040283 - Occasional | | | 5 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | | | | 5 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PRICKLE1 CL E G H | 144165 | 17019 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | | | | 133 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | . | | | 37 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | PRKRA CL E G H | 8575 | 9438 | ORPHA:210571 | Dystonia 16 | HP:0040282 - Frequent | | | 37 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | | | | 81 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | | | | 81 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | | | | 948 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | RARS1 CL E G H | 5917 | 9870 | OMIM:616140 | Leukodystrophy, hypomyelinating, 9 | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | REEP2 CL E G H | 51308 | 17975 | ORPHA:401849 | Autosomal spastic paraplegia type 72 | HP:0040283 - Occasional | | | 3 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | RFC1 CL E G H | 5981 | 9969 | ORPHA:504476 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | RILPL1 CL E G H | 353116 | 26814 | OMIM:619790 | OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4 | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | | | | 77 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | . | | | 77 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SCARB2 CL E G H | 950 | 1665 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | | | | 77 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | | | | 4 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040283 - Occasional | | | 162 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 6 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SLC6A17 CL E G H | 388662 | 31399 | OMIM:616269 | Mental retardation, autosomal recessive 48 | . | | | 12 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | | | | 65 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 287 | | |
HP:0002345 | HP:0030185 | Isometric tremor | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002345 | HP:0030187 | Titubation | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | | | | 126 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | | | | 126 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | | | | 126 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 54 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TECR CL E G H | 9524 | 4551 | OMIM:614020 | Mental retardation, autosomal recessive 14 | | | | 17 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | TENM4 CL E G H | 26011 | 29945 | OMIM:616736 | Tremor, hereditary essential, 5 | | | | 5 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TENM4 CL E G H | 26011 | 29945 | OMIM:616736 | Tremor, hereditary essential, 5 | | | | 5 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | | | | 58 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | | | | 58 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 80 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TMEM63A CL E G H | 9725 | 29118 | OMIM:618688 | LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19 | | | | | | |
HP:0002345 | HP:0030187 | Titubation | 1 | TMEM63A CL E G H | 9725 | 29118 | OMIM:618688 | LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19 | | | | | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | | | | 63 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040283 - Occasional | | | 203 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | . | | | 203 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 2 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | | | | 66 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | | | | 21 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | UFC1 CL E G H | 51506 | 26941 | OMIM:618076 | Neurodevelopmental disorder with spasticity and poor growth | | | | | | |
HP:0002345 | HP:0002174 | Postural tremor | 1 | VAPB CL E G H | 9217 | 12649 | OMIM:608627 | Amyotrophic lateral sclerosis 8 | | | | 116 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | | | | 111 | | |
HP:0002345 | HP:0030187 | Titubation | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | VWA3B CL E G H | 200403 | 28385 | OMIM:616948 | Spinocerebellar ataxia, autosomal recessive 22 | | | | 1 | | |
HP:0002345 | HP:0030186 | Kinetic tremor | 1 | XPNPEP3 CL E G H | 63929 | 28052 | OMIM:613159 | Nephronophthisis-Like nephropathy 1 | . | | | 109 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ABCB7 CL E G H | 22 | 48 | OMIM:301310 | Anemia, sideroblastic, and spinocerebellar ataxia | . | | | 35 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | . | | | 50 | | |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | ACBD5 CL E G H | 91452 | 23338 | OMIM:618863 | RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD | | | | 1 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 114 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040283 - Occasional | | | 64 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ANO10 CL E G H | 55129 | 25519 | OMIM:613728 | Spinocerebellar ataxia, autosomal recessive 10 | HP:0040283 - Occasional | | | 64 | | |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | HP:0040283 - Occasional | | | 17 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ARSA CL E G H | 410 | 713 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 253 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ARSA CL E G H | 410 | 713 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040283 - Occasional | | | 253 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ATCAY CL E G H | 85300 | 779 | OMIM:601238 | Cerebellar ataxia, Cayman type | . | | | 72 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ATCAY CL E G H | 85300 | 779 | ORPHA:94122 | Cerebellar ataxia, Cayman type | HP:0040282 - Frequent | | | 72 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | | | | 3267 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | . | | | 19 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | HP:0040282 - Frequent | | | 19 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | HP:0040282 - Frequent | | | 9 | | |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | CACNA1A CL E G H | 773 | 1388 | ORPHA:98758 | Spinocerebellar ataxia type 6 | HP:0040281 - Very frequent | | | 449 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040283 - Occasional | | | 32 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040284 - Very rare | | | 34 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040283 - Occasional | | | 35 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | . | | | 54 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | HP:0040282 - Frequent | | | 54 | | |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:464440 | Primary dystonia, DYT27 type | HP:0040282 - Frequent | | | 702 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | CSTB CL E G H | 1476 | 2482 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | HP:0040282 - Frequent | | | 51 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | HP:0040283 - Occasional | | | 62 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040282 - Frequent | | | 199 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040282 - Frequent | | | 55 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040282 - Frequent | | | 36 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | FBXO7 CL E G H | 25793 | 13586 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 105 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040282 - Frequent | | | 18 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | HP:0040282 - Frequent | | | 107 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | GJC2 CL E G H | 57165 | 17494 | OMIM:613206 | Spastic paraplegia 44, autosomal recessive | . | | | 37 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | . | | | 39 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | HIBCH CL E G H | 26275 | 4908 | ORPHA:88639 | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | HP:0040284 - Very rare | | | 32 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:233400 | Perrault syndrome 1 | | | | 98 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | . | | | | | |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | HYCC1 CL E G H | 84668 | 24587 | OMIM:610532 | Leukodystrophy, hypomyelinating, 5 | . | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ITM2B CL E G H | 9445 | 6174 | OMIM:117300 | Dementia, familial danish | . | | | 3 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | . | | | 177 | | |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:98769 | Spinocerebellar ataxia type 15/16 | HP:0040282 - Frequent | | | 177 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | HP:0040281 - Very frequent | | | 177 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619725 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040283 - Occasional | | | 38 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | . | | | 38 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | LEMD2 CL E G H | 221496 | 21244 | OMIM:619322 | MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS | | | | 1 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | LMAN2L CL E G H | 81562 | 19263 | OMIM:617863 | | | | | 1 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | LMNB1 CL E G H | 4001 | 6637 | ORPHA:99027 | Adult-onset autosomal dominant leukodystrophy | HP:0040283 - Occasional | | | 44 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | MPZ CL E G H | 4359 | 7225 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 134 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040282 - Frequent | | | 532 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | . | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | 2 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | . | | | 2 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | NOP56 CL E G H | 10528 | 15911 | ORPHA:276198 | Spinocerebellar ataxia type 36 | HP:0040284 - Very rare | | | 9 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | HP:0040283 - Occasional | | | 75 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | PMP22 CL E G H | 5376 | 9118 | OMIM:180800 | Roussy-Levy hereditary areflexic dystasia | . | | | 79 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | . | | | 103 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | . | | | 67 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | POU4F1 CL E G H | 5457 | 9218 | OMIM:619352 | ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040284 - Very rare | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | HP:0040283 - Occasional | | | 5 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PRICKLE1 CL E G H | 144165 | 17019 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | HP:0040282 - Frequent | | | 133 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PSAP CL E G H | 5660 | 9498 | OMIM:610539 | Gaucher disease, atypical | | | | 81 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:309271 | Metachromatic leukodystrophy, adult form | HP:0040283 - Occasional | | | 81 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PSAP CL E G H | 5660 | 9498 | ORPHA:309263 | Metachromatic leukodystrophy, juvenile form | HP:0040283 - Occasional | | | 81 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | QRICH1 CL E G H | 54870 | 24713 | OMIM:617982 | VERVERI-BRADY SYNDROME; VERBRAS | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | RARS1 CL E G H | 5917 | 9870 | OMIM:616140 | Leukodystrophy, hypomyelinating, 9 | . | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | RFC1 CL E G H | 5981 | 9969 | ORPHA:504476 | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | HP:0040282 - Frequent | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | HP:0040282 - Frequent | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040283 - Occasional | | | 309 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | . | | | 77 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SCARB2 CL E G H | 950 | 1665 | ORPHA:308 | Progressive myoclonic epilepsy type 1 | HP:0040282 - Frequent | | | 77 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SCP2 CL E G H | 6342 | 10606 | OMIM:613724 | Leukoencephalopathy with dystonia and motor neuropathy | . | | | 4 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 6 | | |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | SLC19A3 CL E G H | 80704 | 16266 | OMIM:607483 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | | | | 110 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SNCA CL E G H | 6622 | 11138 | ORPHA:171695 | Parkinsonian-pyramidal syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 287 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040283 - Occasional | | | 126 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | . | | | 126 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | . | | | 126 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040283 - Occasional | | | 54 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TECR CL E G H | 9524 | 4551 | OMIM:614020 | Mental retardation, autosomal recessive 14 | | | | 17 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TENM4 CL E G H | 26011 | 29945 | OMIM:616736 | Tremor, hereditary essential, 5 | | | | 5 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | . | | | 58 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | HP:0040282 - Frequent | | | 58 | | |
HP:0002345 | HP:0030147 | Truncal titubation | 2 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TMEM106B CL E G H | 54664 | 22407 | OMIM:617964 | Leukodystrophy, hypomyelinating, 16 | . | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | TMEM63A CL E G H | 9725 | 29118 | OMIM:618688 | LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19 | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TMEM63A CL E G H | 9725 | 29118 | OMIM:618688 | LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19 | | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | TPK1 CL E G H | 27010 | 17358 | OMIM:614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | | | | 21 | | |
HP:0002345 | HP:0007351 | Upper limb postural tremor | 2 | TUBB4A CL E G H | 10382 | 20774 | ORPHA:98805 | Primary dystonia, DYT4 type | HP:0040283 - Occasional | | | 66 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | HP:0040283 - Occasional | | | 21 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | UFC1 CL E G H | 51506 | 26941 | OMIM:618076 | Neurodevelopmental disorder with spasticity and poor growth | . | | | | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | . | | | 111 | | |
HP:0002345 | HP:0002599 | Head titubation | 2 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0002345 | HP:0002080 | Intention tremor | 2 | VWA3B CL E G H | 200403 | 28385 | OMIM:616948 | Spinocerebellar ataxia, autosomal recessive 22 | | | | 1 | | |